Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.090 | 0.889 | 9 | 2005 | 2013 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.080 | 1.000 | 8 | 2005 | 2013 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 0.500 | 2 | 2013 | 2013 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 2004 | 2009 | |||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2013 | ||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 1 | 11796249 | start lost | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 1 | 11262099 | intron variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 1 | 111766501 | missense variant | C/A;T | snv | 0.12; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.320 | 1 | 173865494 | non coding transcript exon variant | G/A | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 1 | 24925432 | intron variant | A/T | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 1 | 150966095 | 3 prime UTR variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv |
|
0.030 | 0.667 | 3 | 2010 | 2015 |